FARS2
| FARS2 | |||
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Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) |
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| Location (UCSC) | Chr 6: 5.26 – 5.83 Mb | Chr 13: 36.12 – 36.73 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Phenylalanyl-tRNA synthetase, mitochondrial (FARS2) is an enzyme that in humans is encoded by the FARS2 gene.[5] This protein encoded by FARS2 localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 14, also known as Alpers encephalopathy, as well as spastic paraplegia 77 and infantile-onset epilepsy and cytochrome c oxidase deficiency.[6][7]
Structure
FARS2 is located on the
Function
Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids.[6] FARS2 charges tRNA(Phe) with phenylalanine and catalyzes direct attachment of m-Tyr (an oxidized version of Phe) to tRNA(Phe). This makes it important for mitochondrial translation and for delivery of the misacylated tRNA to the ribosome and incorporation of ROS-damaged amino acid into proteins.[8][9][10][11] Alternative splicing results in multiple transcript variants.[6]
Catalytic activity
ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + L-phenylalanyl-tRNA(Phe)[8][9][10][11]
Clinical significance
Mutations in FARS2 have been associated to combined oxidative phosphorylation deficiency 14,
Interactions
FARS2 has been shown to have 193 binary
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000145982 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021420 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 10329163.
- ^ a b c d e "Entrez Gene: FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial".
This article incorporates text from this source, which is in the public domain.
- ^ PMID 24161539.
- ^ a b c d "FARS2 - Phenylalanine--tRNA ligase, mitochondrial precursor - Homo sapiens (Human) - FARS2 gene & protein". www.uniprot.org. Retrieved 2018-09-05.
This article incorporates text available under the CC BY 4.0 license.
- ^ PMID 27899622.
- ^ PMID 19549855.
- ^ PMID 22833457.
- S2CID 5856138.
- S2CID 46241711.
- ^ "193 binary interactions found for search term FARS2". IntAct Molecular Interaction Database. EMBL-EBI. Retrieved 2018-09-05.
Further reading
- Levin I, Kessler N, Moor N, Klipcan L, Koc E, Templeton P, Spremulli L, Safro M (September 2007). "Purification, crystallization and preliminary X-ray characterization of a human mitochondrial phenylalanyl-tRNA synthetase". Acta Crystallographica Section F. 63 (Pt 9): 761–4. PMID 17768348.
- Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J, Stanton LW (June 2004). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nature Biotechnology. 22 (6): 707–16. S2CID 27764390.
- Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S, Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L, Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N, Klika A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J, Ducar M (May 2001). "Creation of genome-wide protein expression libraries using random activation of gene expression". Nature Biotechnology. 19 (5): 440–5. S2CID 25064683.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. PMID 9373149.
- Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. PMID 8125298.
External links
- Nuclear Gene-Encoded Leigh Syndrome Overview
- Mitochondrial DNA-Associated Leigh Syndrome and NARP
- Overview of all the structural information available in the PDB for UniProt: O95363 (Phenylalanine--tRNA ligase, mitochondrial) at the PDBe-KB.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.